Basic information of L3MBTL3 :
| Official Symbol of Gene | L3MBTL3 |
| Species | Homo sapiens |
| Entrez Gene ID | 84456 |
| Official Full Name | L3MBTL histone methyl-lysine binding protein 3 |
| Also known as | MBT1; MBT-1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000198945 MIM:618844; AllianceGenome:HGNC:23035 |
| Map Location | 6q23.1 |
| Variation Type | SNP |
| refSNP ID | rs7740107 |
Sample information of multiple sclerosis:
| Detected Sample | Blood |
| Sample Detail | N/A |
| Detected Method | TaqMan |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 3450 MS patients and 1688 age- and sex-matched healthy donors |
Literature information of multiple sclerosis :
| Pubmed ID | 35088080 |
| Year | 2022 |
| Title | Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | positive |
| Result | Our data and other functional studies suggest that the genetic mechanism underlying the MS association of rs7740107 affects not only the expression of L3MBTL3 isoforms, but might also involve the Notch signalling pathway. |
| Mechanism/Pathway | Our data and other functional studies suggest that the genetic mechanism underlying the MS association of rs7740107 affects not only the expression of L3MBTL3 isoforms, but might also involve the Notch signalling pathway. |
